Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene

Nidaa A. Ababneh; Raghda Barham; Ban Al-Kurdi; Dema Ali; Nour Sharar; Sabal Al Hadidi; Renata M. Alatoom; Suzan Zalloum; Mohammad H. Gharandouq; Leen Makahleh; Leena N. Alnsour; Hebah Alshahwan; Mohammed El-Khateeb; Abdalla Awidi

Stem Cell Research (Jul 2021)

Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene

Nidaa A. Ababneh,
Raghda Barham,
Ban Al-Kurdi,
Dema Ali,
Nour Sharar,
Sabal Al Hadidi,
Renata M. Alatoom,
Suzan Zalloum,
Mohammad H. Gharandouq,
Leen Makahleh,
Leena N. Alnsour,
Hebah Alshahwan,
Mohammed El-Khateeb,
Abdalla Awidi

Affiliations

Nidaa A. Ababneh: Cell Therapy Center, the University of Jordan, Amman, Jordan; Corresponding author.
Raghda Barham: Cell Therapy Center, the University of Jordan, Amman, Jordan
Ban Al-Kurdi: Cell Therapy Center, the University of Jordan, Amman, Jordan
Dema Ali: Cell Therapy Center, the University of Jordan, Amman, Jordan
Nour Sharar: Cell Therapy Center, the University of Jordan, Amman, Jordan
Sabal Al Hadidi: Cell Therapy Center, the University of Jordan, Amman, Jordan
Renata M. Alatoom: Cell Therapy Center, the University of Jordan, Amman, Jordan
Suzan Zalloum: Hemostasis and Thrombosis Laboratory, School of Medicine, the University of Jordan, Amman, Jordan
Mohammad H. Gharandouq: Cell Therapy Center, the University of Jordan, Amman, Jordan
Leen Makahleh: School of Medicine, the University of Jordan, Amman, Jordan
Leena N. Alnsour: Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan
Hebah Alshahwan: School of Medicine, the University of Jordan, Amman, Jordan
Mohammed El-Khateeb: National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
Abdalla Awidi: Cell Therapy Center, the University of Jordan, Amman, Jordan; Hemostasis and Thrombosis Laboratory, School of Medicine, the University of Jordan, Amman, Jordan; Department of Hematology and Oncology, Jordan University Hospital, Amman, Jordan

Journal volume & issue: Vol. 54
p. 102358

Abstract

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Limb-girdle muscular dystrophies (LGMDs) are a large group of heterogenous genetic diseases characterized by muscle weakness. In this study, an induced pluripotent stem cell (iPSC) line was generated from LGMD patient’s skin dermal fibroblasts, carrying a homozygous mutation in the Sarcoglycan Beta (SGCB) gene; chr4:52890221, c. 859 delC, p.Lue 287Ser fs14*. The reprogramming process was carried out using Sendai viruses encoding for Yamanaka factors. The resulting iPSCs showed normal morphology and karyotype, expressed pluripotency markers, demonstrated the potential to differentiate in vitro into three germ layers and retained the disease-causing SGCB mutation. This iPSC line represents an ideal source of cells for the investigation of LGMD disease mechanisms.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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